18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235delC和线粒体DNA 12SrRNA A1555G突变筛查报告

Molecular etiology of patients with nonsyndromic hearing loss from deaf-mute schools in 18 provinces of China

目的通过统一的调查、标本采取和基因筛查方法进行全国性重度感音性耳聋的分子流行病学调查和研究。方法通过标准化的流行病学调查设计、行政组织、标本采取和GJB2 235delC和线粒体DNA 12SrRNA A1555G筛查方法进行全国18个省市自治区的重度感音神经性耳聋患者的一般情况和常见分子病因学调查。结果收集来自18个省市2065例重度至极重度感音神经性耳聋病例,其中非综合征性耳聋病例2016例,筛查出线粒体 DNA 12SrRNA A1555G突变病例57例,GJB2 235纯合突变148例,GJB2杂合突变157例。调查显示在中国各地, 线粒体DNA 12SrRNA A1555G和GJB2 235delC突变相关性耳聋占有较高的比例,同时各地区间检出率差异较大。结论在中国广大地区的重度神经性耳聋患者中,常见突变引起的遗传性耳聋占有较大的比例,基因筛查方法是进行耳聋病因流行病学调查的有用工具。

Objective A nationwide epidemiologilcal investigation for severe to profound sensorineural hearing loss were initiated by Genetic Testing Center for Deafness of PLA General Hospital. Methods A standardized program of epidemiological design, administrative support, sample collection and mutation screening for GJB2 235delc and mtDNA 12SrRNA A1555G were used to study the general condition and common molecular etiology of patients with severe to profound hearing loss from 18 provinces Of China. Results 2016 cases with severe to profound hearing loss from 18 provinces were collected and 57 cases were found to carry mtDNA 12SrRNA A1555G mutation, meanwhile, 148 cases were found to carry homozygous GJB2 235 delC and 157 cases were found to carry heterozygous GJB2 235delc mutation. Conclusion Among the patients with severe to profound hearing loss from wide areas of China, a high proportion of hereditary hearing impairment caused by common mtDNA 12SrRNA A1555G and GJB2 235delC mutations was recovered by a genetic screening strategy which proved to be a useful tool for epidemiological investigation of severe to profound hearing loss.